ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2615C>T (p.Pro872Leu)

gnomAD frequency: 0.00001  dbSNP: rs786202977
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166072 SCV000216835 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-03 criteria provided, single submitter clinical testing The p.P872L variant (also known as c.2615C>T), located in coding exon 16 of the ATM gene, results from a C to T substitution at nucleotide position 2615. The proline at codon 872 is replaced by leucine, an amino acid with similar properties. This alteration was also detected on a 25-gene panel test in a woman of African ancestry who was diagnosed with breast cancer before age 50 (Tung N et al. Cancer, 2015 Jan;121:25-33). This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000196727 SCV000254071 uncertain significance Ataxia-telangiectasia syndrome 2023-05-14 criteria provided, single submitter clinical testing An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 186472). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 872 of the ATM protein (p.Pro872Leu).
Baylor Genetics RCV003468771 SCV004210274 uncertain significance Familial cancer of breast 2023-06-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV000196727 SCV001462079 uncertain significance Ataxia-telangiectasia syndrome 2020-09-16 no assertion criteria provided clinical testing

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